{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T11:29:39Z","timestamp":1775302179705,"version":"3.50.1"},"reference-count":26,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,2]]},"abstract":"<jats:p>The current state of molecular diagnosis of some common genetic diseases, including cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B, phenylketonuria, and thalassaemia, in Russia and elsewhere in the former USSR is reviewed. Data on carrier detection and prenatal diagnosis are presented and some objective problems and obstacles hampering efficient molecular diagnosis in Russia are discussed. The necessity for molecular diagnosis of some other inherited diseases (for example, von Willebrand's disease, Martin-Bell syndrome, polycystic kidney disease, Huntington's disease, and myotonic dystrophy) is stressed. The need for establishing new diagnostic centres dealing with the most common diseases, as well as rare genetic diseases, is substantiated. Perspectives on the implementation of new molecular methods and new technical approaches (preimplantation embryo diagnosis, fetal cells selected from maternal blood) are briefly outlined.<\/jats:p>","DOI":"10.1136\/jmg.30.2.141","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"141-146","source":"Crossref","is-referenced-by-count":6,"title":["Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future."],"prefix":"10.1136","volume":"30","author":[{"given":"V S","family":"Baranov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,2,1]]},"reference":[{"key":"ref_1","first-page":"199200","article-title":"Allelic polymorphism of DNA loci closely linked to CF-gene in affected and non-affected persons from different populations of the USSR","volume":"5","author":"Baranov, V.S.; Ivaschenko, T.E.; Gorbunova, V.N.","year":"1990","unstructured":"Baranov VS, Ivaschenko TE, Gorbunova VN, et al. Allelic polymorphism of DNA loci closely linked to CF-gene in affected and non-affected persons from different populations of the USSR. Pediatr Pulmonol Suppl 1990;5:199200.","journal-title":"Pediatr Pulmonol Suppl"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/BF01213094","article-title":"Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR","volume":"87","author":"Baranov, V.S.; Ivaschenko, T.E.; Gorbunova, V.N.","year":"1991","unstructured":"Baranov VS, Ivaschenko TE, Gorbunova VN, et al. Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR. 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A deletion of two nucleotides in a Soviet family with cystic fibrosis causing early infant death. Genomics 1991;10:298-9.","journal-title":"Genomics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/pd.1970120703","article-title":"Five years experience in prenatal diagnosis of cystic fibrosis in the USSR","volume":"12","author":"Baranov, V.S.; Gorbunova, V.N.; Ivaschenko, T.E.","year":"1992","unstructured":"Baranov VS, Gorbunova VN, Ivaschenko TE, et al. Five years experience in prenatal diagnosis of cystic fibrosis in the USSR. Prenat Diagn 1992;12:575-86.","journal-title":"Prenat Diagn"},{"key":"ref_8","first-page":"202","article-title":"Genetic heterogeneity of clinical forms of CF","volume":"5","year":"1990","unstructured":"Voronina 0, Gaitskhoki V, Potapova 0, Gembytskaya T. Genetic heterogeneity of clinical forms of CF. 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